Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT

Hennessy, Grace; Shetty, Deepa; Loh, Han Tong; Bui, Chuong; Le, Ken; Mansberg, Robert

doi:10.1097/rlu.0000000000001372

Cited by 6 publications

(3 citation statements)

References 4 publications

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“…Nuclear medicine imaging studies such as 99m Tc-MDP, usually combined with single-photon emission computed tomography (SPECT) to give better anatomical resolution, or 18 F NaF PET/CT demonstrate increased tracer uptake at the foci of skeletal disease [10].…”

Section: Methodsmentioning

confidence: 99%

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Javaid

Boyce

Appelman‐Dijkstra

et al. 2019

Orphanet J Rare Dis

166

191

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Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients’ advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally. Electronic supplementary material The online version of this article (10.1186/s13023-019-1102-9) contains supplementary material, which is available to authorized users.

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Section: Methodsmentioning

confidence: 99%

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Javaid

Boyce

Appelman‐Dijkstra

et al. 2019

Orphanet J Rare Dis

166

191

View full text Add to dashboard Cite

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“…However, no decision was made based on scintigraphy in assessing whether the lesion was benign. The differential diagnosis of inflammatory or neoplastic bone changes may be difficult in cases of FD (76)(77)(78)(79)(80)(81). Malignant degeneration of FD is rare 602G>A;pR201H).…”

Section: Fibrous Dysplasiamentioning

confidence: 99%

Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey

2019

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Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS). Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. The examination of the psychologically conspicuous patient revealed a unilateral mandibular tumor with dysesthesia of the mental nerve. Surgical removal of soft, crumbly spongiosa over the nerve canal resulted in sufficient pressure release of the constricted nerve and restoration of epicritic sensitivity. Imaging findings and histological and molecular genetic examination revealed monostotic craniofacial fibrous dysplasia. Conclusion: Although the data in the literature do not give reason to suppose an accumulation of neoplasms in TXS, a numb chin syndrome should be a reason for detailed diagnostics. Careful diagnosis allows for customized therapy. This is the first report on the coincidence of TXS, fragile X syndrome, and fibrous dysplasia in a single individual.

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“…Generally, conservative management is adequate for FD patients, and education around fall prevention may minimize the risk of a femoral fracture. Nevertheless, the radiologic features of fibrous dysplasia in cancer patients could lead to a misperception in the assessment of tumor staging, and there have been several reports of FD mimicking malignancy radiologically [ 4 , 5 , 6 , 7 ]. Furthermore, there is no reliable threshold for FDG avidity to differentiate FD from malignancy currently, because of overlapping SUVmax values [ 8 ].…”

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confidence: 99%

Monostotic Fibrous Dysplasia Mimicking Metastasis in the Femoral Neck on Bone Scintigraphy and 18F-FDG PET/CT

2020

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A 51-year-old woman who had lung adenocarcinoma was found to have a high uptake area over the right femoral neck by means of bone scintigraphy, suggesting a suspicious bony metastasis. 18F-FDG PET/CT was arranged, and showed an FDG-avid lesion in the same region. However, after augmented CT, a well-defined ground-glass lesion with circular calcification was found, which is the favored benign lesion of fibrous dysplasia. The following imaging of bone scintigraphy and 18F-FDG PET/CT presented no apparent change. This case demonstrates that the treatment scheme should not be solely guided by abnormalities in scintigraphy. Additional imaging is recommended for accurate staging or development of an appropriate treatment plan.

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Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT

Cited by 6 publications

References 4 publications

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey

Monostotic Fibrous Dysplasia Mimicking Metastasis in the Femoral Neck on Bone Scintigraphy and 18F-FDG PET/CT

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